Pediatric Osteosarcoma Clinical Presentation

Updated: Oct 21, 2015
  • Author: Timothy P Cripe, MD, PhD, FAAP; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Symptoms may be present for weeks, months, or occasionally longer before osteosarcoma is diagnosed. The most common presenting symptom of osteosarcoma is pain, particularly with activity. Patients may complain of a sprain, arthritis, or so-called growing pains. The patient often has a history of trauma, although pathologic fractures are not particularly common. The exception is the telangiectatic type of osteosarcoma, which is commonly associated with pathologic fractures. If pain affects a lower extremity, it may result in a limp.

The patient may have a history of swelling, depending on the size of the lesion and its location. Systemic symptoms, such as fever and night sweats, are rare. Tumoral spread to the lungs rarely results in respiratory symptoms, and such symptoms usually indicate extensive lung involvement. Metastases to other sites are extremely rare; therefore, other symptoms are unusual. Only 15-20% of patients present with metastases, which primarily affect the lungs but can also affect other bones. Manifestations at several bone sites at diagnosis may indicate multifocal sclerosing osteosarcoma.

Osteosarcoma most commonly involves the distal femur and proximal tibia, followed by the proximal humerus and mid and proximal femur. As many as 20% of patients present with tumors of the flat bones of the body including the skull and pelvis. Tumors of the jaw are relatively uncommon.



Physical findings are usually limited to those of the primary tumor site.

  • Mass: A palpable mass may be present. The mass may be tender and warm, although these signs are indistinguishable from those of osteomyelitis. Increased skin vascularity over the mass may be discernible. Pulsations or a bruit may be detectable.

  • Decreased range of motion: Joint involvement should be obvious on physical examination.

  • Lymphadenopathy: Involvement of local or regional lymph nodes is unusual.

  • Respiratory findings: Auscultation is usually uninformative unless extensive pulmonary disease is present.



The exact cause of osteosarcoma is unknown. However, numerous risk factors are known.

  • Rapid bone growth appears to predispose patients to osteosarcoma, as suggested by the increased incidence during the adolescent growth spurt, [4] the high incidence among large dogs (eg, Great Danes, St Bernards, German shepherds), and the typical location of osteosarcomas near the metaphyseal growth plate of long bones.

  • Exposure to radiation is the only known environmental risk factor.

  • There appears to be a cluster of tumor suppressor genes on chromosome 3. [5]

  • A genetic predisposition may be present. [6, 7]

    • Retinoblastoma, especially the combination of a constitutional mutation of the RB gene (germline retinoblastoma) with radiation therapy, is associated with a particularly high risk of osteosarcoma development. Of note, the genetic locus retinoblastoma at band 13q14 has also been implicated in the pathogenesis of sporadic osteosarcoma.

    • Bone dysplasias, including Paget disease, fibrous dysplasia, enchondromatosis, and hereditary multiple exostoses, increase the risk for osteosarcoma.

    • Li-Fraumeni syndrome (germline TP53 mutation) is a predisposing factor for osteosarcoma.

    • Rothmund-Thomson syndrome (ie, autosomal recessive association of congenital bone defects, hair and skin dysplasias, hypogonadism, cataracts) is associated with an increased risk of osteosarcoma.